The Beginning

Spinal. Muscular. Atrophy. A combination of words that we had never previously recognized as a single phrase representing a condition. Those were the words that kept floating to the top of every list of searches when we were desperately looking for answers. “Baby not bearing weight on legs,” “sitting but not crawling,” “floppy baby reasons.” Search after search seemed to point in the same direction. Spinal Muscular Atrophy (SMA).

We had our suspect, would the doctors agree? After reading about SMA, it seemed very rare. Mom and Dad both need to be carriers (1 in 50 chance). Each child has a 25% chance of having the genetic deletion. Wouldn’t it statistically make sense for Alexander’s two older brothers to show symptoms? This seemed to point our doctors in other directions: cerebral palsy, mitochondrial disorders, muscular dystrophy, metabolic dissorders. Negative, negative, negative, …

Alexander was a very happy baby. He did everything he was supposed to do, and seemed to be healthy. He was very sociable, reached early milestones such as sitting up at 5-6 months, and was growing as expected. Our very first indication that something was not right with our sweet little boy, was that he was not bearing weight on his legs at six months. This was brought up to the PA at our doctors office, only to be dismissed. The months went by and still he was not standing. We noticed more weakness. He was unable to lift his head from the floor. He did not crawl. Finally, we were referred to a neurologist. We had MRIs done of his brain and spine along with bloodwork. All came back negative, and the doctor assured us that it was just a developmental delay. We asked for a referral to a geneticist. The results from the tests she ordered all came back normal. It was a very long, concerning year for us as we watched our baby struggle to do things that should be easy for him. We became very concerned when he started to struggle to lift his arms, something he had no problem with before. It was then that we decided that we needed a second opinion. This was not just a developmental delay. We had to wait many months to get an appointment with another neurologist.

After what felt like an eternity of waiting, we finally met with Dr. Lindsey in Morgantown WV. Dr. Lindsey spent a very long time asking us questions about his medical history, our family history and his current development. I was very impressed with the amount of time spent with us. It was a very different experience than we had with doctors previously. She left the exam room for a short time and came back with papers in her hand. She asked us if we were familiar with SMA. We had suspected he had SMA for a long time, and we finally had a doctor who was thinking the same. My heart sank. It was scary because we knew the gravity of having a SMA diagnosis. She ordered the bloodwork to do genetic testing to confirm our suspicions. Insurance had to approve the testing, and then we made the 4 hour trip back to Morgantown to have his blood drawn.

Each day was nerve wracking as we were quite literally awaiting to learn the fate of our child. We received the call almost a week later. Genetic testing confirmed he was missing the SMN1 gene, meaning our child has SMA type 2. You hear the saying, having the wind knocked out of you. This doesn’t even come close to the feeling of having that news delivered. Perhaps it wouldn’t have been quite so earth shattering if we hadn’t already suspected on our own, and had read up on it. We knew how serious SMA is and the struggles and difficult future our child and family will face. Harder yet was delivering the news to family.

Why we are here: We create Action for Alex to raise awareness of this condition and hopefully help in the search for treatments or a cure. We also hope that other families can read about our journey to help them in theirs, or at least let them know that they are not alone. Most importantly, we are here for Alexander. We want him to maximize his experiences and persistently fight for a treatment.